A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559703



Internal ID16000426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:88103897..88130475hg38UCSC Ensembl
Innerchr12:88497674..88524252hg19UCSC Ensembl
Innerchr12:87021805..87048383hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3826579
hg1926579
hg1826579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2772n54
Supporting Variantsnssv800014
Samples
Known GenesCEP290
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559703
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer